Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Genetics and Genomics of Endocrine Diseases in Children and Adolescents
share announcement

Genetics and Genomics of Endocrine Diseases in Children and Adolescents

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 414

Special Issue Editor

Prof. Dr. Malgorzata Wasniewska

E-Mail Website
Guest Editor
Department of Human Pathology of Adult- and Childhood, University of Messina, Messina, Italy
Interests: pediatric endocrinology; autoimmune diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endocrine diseases (EDs) in children and adolescents are characterized by a multifactorial etiology, in which genetic and environmental factors are responsible for the clinical picture.

The different genetic factors could be associated not only with disease susceptibility but also with specific disease phenotypes. The recognition of specific genetic variants might help us to better understand EDs’ pathogenic mechanisms and identify patients with a more complex clinical course of disease. Knowledge of new aspects of EDs could help us to better understand disease etiology and treatment response and also contribute to the development of new therapies. The main objective of this Special Issue is to provide an update on the most important topics related to ED genetics, with particular attention to organ-specific ones. In addition, we are interested in highlighting studies on comorbidities in EDs and their interrelations. Furthermore, we hope to make a comparison between researchers and clinicians with the aim of transferring the most recent innovations into daily practice, adopting shared lines of behavior, and, thus, strengthening the integration between these two groups.

This will be accomplished in the form of a collection of original research, case reports, and systematic review articles.

Prof. Dr. Malgorzata Wasniewska
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrine disease
  • endocrine gland
  • genetic syndrome
  • genetic polymorphism
  • genetic pathomechanism

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Other

10 pages, 1523 KiB  
Case Report
Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature
by Giovanni Luppino, Malgorzata Wasniewska, Giorgia Pepe, Letteria Anna Morabito, Silvana Briuglia, Antonino Moschella, Francesca Franchina, Cecilia Lugarà, Tommaso Aversa and Domenico Corica
Genes 2025, 16(8), 859; https://doi.org/10.3390/genes16080859 - 23 Jul 2025
Viewed by 209
Abstract
Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. SEDT5 gene variants have been described in patients with KBG and Cornelia de [...] Read more.
Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange (CdL) syndromes. Case description: A female patient with severe short stature and intellectual disability had been followed since she was 9 years old. Several causes of short stature were ruled out. At the age of 12 years, her height was 114 cm (−5.22 SDS), weight 19 kg (−5.88 SDS), BMI 14.6 kg/m2 (−2.26 SDS), and was Tanner stage 1. The target height for the proband was 151.65 cm (−1.80 SDS). The bone age (BA) was delayed by 3 years compared to chronological age. The growth rate was persistently deficient (<<2 SDS). Physical examination revealed dysmorphic features. Genetic analysis documented a de novo SETD5 gene mutation (c.890_891delTT), responsible for phenotypes in the context of an overlap syndrome between the phenotype of MDR23, CdL and KBG syndromes. Recombinant growth hormone therapy (rhGH) was started at the age of 12 years. After both one year (+3.16 SDS) and two years (+2.9 SDS), the growth rate significantly increased compared with the pre-therapy period. Conclusion: This is the first case of a patient with overlap syndrome due to SETD5 mutation treated with rhGH. The review of the scientific literature highlighted the clinical and molecular features of SETD5 gene mutation and the use of rhGH therapy in patients suffering from CdL and KBG syndromes. Full article
(This article belongs to the Special Issue Genetics and Genomics of Endocrine Diseases in Children and Adolescents)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-1
Back to TopTop